Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Johanna C. Moolman-Smook"'
Publikováno v:
SA Heart Journal, Vol 7, Iss 1, Pp 38-47 (2017)
Myosin binding protein C remained a perplexing although integral component of the sarcomeric thick filament until the discovery that genetic defects in its corresponding gene is a frequent cause of hypertrophic cardiomyopathy. Basic science investiga
Externí odkaz:
https://doaj.org/article/d41b372101a849ac8d99c07d15e6327d
Autor:
Christian M Hagen, Frederik H Aidt, Paula L Hedley, Morten K Jensen, Ole Havndrup, Jørgen K Kanters, Johanna C Moolman-Smook, Severin O Larsen, Henning Bundgaard, Michael Christiansen
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e71904 (2013)
Hypertrophic cardiomyopathy (HCM) is a genetic disorder caused by mutations in genes coding for proteins involved in sarcomere function. The disease is associated with mitochondrial dysfunction. Evolutionarily developed variation in mitochondrial DNA
Externí odkaz:
https://doaj.org/article/4388564e67bf4d619bb8318a47927675
Autor:
Johanna C. Moolman-Smook, P.A. Brink, Adriano S Pellizzon, Jomien Mouton, A. Goosen, Philip Herbst, Craig J. Kinnear
Publikováno v:
Cardiovascular Journal of Africa
Summary Introduction The minimum criterion for the diagnosis of hypertrophic cardiomyopathy (HCM) is thickening of the left ventricular wall, typically in an asymmetrical or focal fashion, and it requires no functional deficit. Using this criterion,
Publikováno v:
Experimental Cell Research. 331:338-351
Myosin binding protein H (MyBPH) is a protein of unknown function, which shares sequence and structural similarities with myosin binding protein C (cMyBPC), a protein frequently implicated in hypertrophic cardiomyopathy (HCM). Given the similarity be
Autor:
Dan J. Stein, Johanna C. Moolman-Smook, Nonhlanhla P. Khumalo, Sian M. J. Hemmings, Gasnat Shaboodien
Publikováno v:
JAAD Case Reports
Trichotillomania (hair pulling disorder), excoriation (skin-picking) disorder, and other body-focused repetitive behavior disorders (BFRBDs) have received increasing attention in the psychiatric nomenclature. Trichotillomania was introduced in the Di
Publikováno v:
SA Heart Journal, Vol 7, Iss 1, Pp 38-47 (2017)
Myosin binding protein C remained a perplexing although integral component of the sarcomeric thick filament until the discovery that genetic defects in its corresponding gene is a frequent cause of hypertrophic cardiomyopathy. Basic science investiga
Autor:
Mia T. N. Godiksen, Peter Højrup, Tina Ravnsborg, Sara Granström, Paula L. Hedley, Johanna C. Moolman-Smook, Michael Christiansen, Inga Laursen, Craig J. Kinnear, Jørgen Koch, William J. McKenna
Publikováno v:
Open Journal of Veterinary Medicine. :95-103
Hypertrophic cardiomyopathy (HCM) is a myocardial disorder, with complications including heart failure, thromboemboli and sudden death. Human and feline HCM (fHCM) are clinically comparable, thus fHCM may serve as a spontaneous animal model. fHCM in
Autor:
Paul A. Brink, Marshall Heradien, Nadia Carstens, Johanna C. Moolman-Smook, Miriam Revera, Lize van der Merwe, Althea Goosen
Publikováno v:
Journal of the Renin-Angiotensin-Aldosterone System, Vol 12 (2011)
Introduction. Hypertrophic cardiomyopathy (HCM), an inherited primary cardiac disorder mostly caused by defective sarcomeric proteins, serves as a model to investigate left ventricular hypertrophy (LVH). HCM manifests extreme variability in the degre
Autor:
Ashley Chin, Mzwandile Mbele, Azeem Latib, David A Watkins, Andrzej Okreglicki, Motasim Badri, Brian Z. Vezi, Johanna C. Moolman-Smook, Bongani M. Mayosi, Francesca Little, Gasnat Shaboodien, Michelle Parker, Neil Hendricks
Publikováno v:
Heart Rhythm. 6:S10-S17
Little is known about arrhythmogenic right ventricular cardiomyopathy (ARVC) in Africa. The objective of this study was to delineate the clinical characteristics, survival, and genetics of ARVC in South Africa. Information on clinical presentation, e
Autor:
Marshall Heradien, Bongani M. Mayosi, Valerie A. Corfield, Lize van der Merwe, Johanna C. Moolman-Smook, Paul A. Brink, Althea Goosen, Miriam Revera
Publikováno v:
Heart Rhythm
Abnormal blood pressure response to exercise is reported to occur in up to a third of hypertrophic cardiomyopathy (HCM) cases and is associated with an increased risk of death, particularly in the young, but it is not known whether the HCM-causing mu